My colleagues in the National Human Genome Research Institute and I have continued to study a number of complex and Mendelian genetic traits in humans. Notably, we succeeded in determining the genetic defect in familial dysautonomia (Riley-Day Syndrome). On other fronts, we have continued working on the Mammalian Gene Collection, the goal of which is to clone and sequence full-length cDNAs corresponding to all human transcripts, and have begun work on the Brain Molecular Anatomy Project (BMAP). Renovation of space for BMAP studies is complete, and staff members have been recruited. Large expression arrays have been produced and a novel method for labeling probes has been developed. A Transgenic/knockout Facility was in created, and a manager, Dr. J. Pickel, was hired in the first quarter of 2001. Five staff members have been hired and have undergone technical training. The unit is fully equipped and has begun working on investigator-initiated projects.